It’s been a while since I’ve updated about where we are in finding a diagnosis for Amber. We haven’t been in to see her geneticist since May. It was actually the week before she was admitted for respiratory problems. Amber’s geneticists did come to visit us when we were in for her hernia repair but at that point had no new news for us. In case you don’t remember, because it feels like it was a long time ago. The last time we saw her (the geneticist) she had sent Amber’s x-rays out to Cedar-Sinai in CA to have them compare Amber’s x-rays to all of theirs in their big skeletal dysplasia bank. She also did some blood work on Amber to check for Jeune Syndrome and UPD 14. I was waiting for more information before I talked about it but I haven’t had any so to make things slightly easier I’ll let you know this much now. Here is an e-mail I received from her almost a month ago (I added everything in black):
Dear Mr. and Mrs. Amick, (still so weird to see that!)
I wanted to let you know that I heard back from the Skeletal Dysplasia Registry at Cedars-Sinai Medical Center. They let me know that based upon the information they received that Amber’s case needs more extensive review before a diagnosis can be made. They hope to be able to finalize the case in the next few weeks. I will be sure to let you know as soon as I have heard back from them. (I hate waiting!!)
As you may recall, we sent out genetic testing to look for genetic causes of Jeune syndrome and this testing was normal (IFT80 and DYNC2H1 gene sequencing). As only 20% of cases of Jeune syndrome are caused by mutations in these genes, the normal results do not yet allow us to rule out this diagnosis. (Not exactly what I was expecting to hear but doesn’t send us back to square one)
We also did a test called Uniparental Disomy 14 (when both copies of chromosome 14 have been inherited from one parent) and these results were also normal. (Exactly what I expected to hear!)
I will be back in touch once I have heard back from Cedars Sinai but please let me know if you have any questions before then. (yes, please tell them to hurry their butts up!)
I hope you and Amber are doing well and she is doing well with her g tube feeds.
I would really be surprised if they came back saying it was not a form of Jeune Syndrome because so far she fits this one the best. I’m praying for patience and trying not to go crazy waiting to hear from them. We had an appointment with a new orthopedic surgeon who told us that only recently are they realizing these syndromes have genetic markers to them, before they were solely diagnosed based on appearances. I guess that’s why only 20% of them have the positive blood work. Hopefully we’ll have more information soon or maybe even a diagnosis (I won’t hold my breath).